Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5397 | 16414;16415;16416 | chr2:178732987;178732986;178732985 | chr2:179597714;179597713;179597712 |
| N2AB | 5080 | 15463;15464;15465 | chr2:178732987;178732986;178732985 | chr2:179597714;179597713;179597712 |
| N2A | 4153 | 12682;12683;12684 | chr2:178732987;178732986;178732985 | chr2:179597714;179597713;179597712 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1362992469  |
-2.355 | 0.124 | N | 0.676 | 0.394 | 0.752681016308 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.46831E-04 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1362992469 |
-2.355 | 0.124 | N | 0.676 | 0.394 | 0.752681016308 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1362992469 |
-2.355 | 0.124 | N | 0.676 | 0.394 | 0.752681016308 | gnomAD-4.0.0 | 4.06017E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13817E-04 | None | 0 | 0 | 3.61488E-06 | 0 | 0 |
| I/V | rs1451191038 |
-0.943 | None | N | 0.201 | 0.152 | 0.112648838833 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| I/V | rs1451191038 |
-0.943 | None | N | 0.201 | 0.152 | 0.112648838833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1451191038 |
-0.943 | None | N | 0.201 | 0.152 | 0.112648838833 | gnomAD-4.0.0 | 2.56291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78641E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4513 | ambiguous | 0.4799 | ambiguous | -1.951 | Destabilizing | 0.072 | N | 0.636 | neutral | None | None | None | None | N |
| I/C | 0.8609 | likely_pathogenic | 0.8776 | pathogenic | -1.076 | Destabilizing | 0.909 | D | 0.711 | prob.delet. | None | None | None | None | N |
| I/D | 0.9469 | likely_pathogenic | 0.9525 | pathogenic | -2.472 | Highly Destabilizing | 0.726 | D | 0.802 | deleterious | None | None | None | None | N |
| I/E | 0.8842 | likely_pathogenic | 0.8923 | pathogenic | -2.194 | Highly Destabilizing | 0.726 | D | 0.793 | deleterious | None | None | None | None | N |
| I/F | 0.2308 | likely_benign | 0.2427 | benign | -1.218 | Destabilizing | 0.396 | N | 0.659 | neutral | None | None | None | None | N |
| I/G | 0.8644 | likely_pathogenic | 0.8728 | pathogenic | -2.489 | Highly Destabilizing | 0.726 | D | 0.771 | deleterious | None | None | None | None | N |
| I/H | 0.8716 | likely_pathogenic | 0.8834 | pathogenic | -2.137 | Highly Destabilizing | 0.968 | D | 0.785 | deleterious | None | None | None | None | N |
| I/K | 0.8084 | likely_pathogenic | 0.8155 | pathogenic | -1.391 | Destabilizing | 0.667 | D | 0.789 | deleterious | D | 0.524782264 | None | None | N |
| I/L | 0.0787 | likely_benign | 0.0817 | benign | -0.372 | Destabilizing | None | N | 0.221 | neutral | N | 0.403953723 | None | None | N |
| I/M | 0.0975 | likely_benign | 0.1039 | benign | -0.357 | Destabilizing | 0.331 | N | 0.663 | neutral | D | 0.536217279 | None | None | N |
| I/N | 0.7297 | likely_pathogenic | 0.7493 | pathogenic | -1.95 | Destabilizing | 0.89 | D | 0.803 | deleterious | None | None | None | None | N |
| I/P | 0.9049 | likely_pathogenic | 0.9094 | pathogenic | -0.884 | Destabilizing | 0.89 | D | 0.801 | deleterious | None | None | None | None | N |
| I/Q | 0.8322 | likely_pathogenic | 0.843 | pathogenic | -1.674 | Destabilizing | 0.89 | D | 0.797 | deleterious | None | None | None | None | N |
| I/R | 0.7304 | likely_pathogenic | 0.732 | pathogenic | -1.47 | Destabilizing | 0.667 | D | 0.801 | deleterious | D | 0.536303154 | None | None | N |
| I/S | 0.6907 | likely_pathogenic | 0.7192 | pathogenic | -2.528 | Highly Destabilizing | 0.567 | D | 0.739 | prob.delet. | None | None | None | None | N |
| I/T | 0.3717 | ambiguous | 0.4068 | ambiguous | -2.092 | Highly Destabilizing | 0.124 | N | 0.676 | prob.neutral | N | 0.52174039 | None | None | N |
| I/V | 0.0898 | likely_benign | 0.0927 | benign | -0.884 | Destabilizing | None | N | 0.201 | neutral | N | 0.466181191 | None | None | N |
| I/W | 0.8735 | likely_pathogenic | 0.8825 | pathogenic | -1.619 | Destabilizing | 0.968 | D | 0.765 | deleterious | None | None | None | None | N |
| I/Y | 0.7056 | likely_pathogenic | 0.7151 | pathogenic | -1.24 | Destabilizing | 0.726 | D | 0.754 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.